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  • Writer's pictureREN

Get to Know KIF1A.ORG

Updated: Apr 25, 2021

About KIF1A Associated Neurological Disorder (KAND)

KIF1A Associated Neurological Disorder (KAND) encompasses a recently identified group of rare neurodegenerative conditions caused by variants in the KIF1A gene. In late 2020, approximately 300 patients have been identified, but researchers suspect tens of thousands of people have been mis- or undiagnosed. KAND causes a wide range of symptoms with varying severity, including seizures, neurodevelopmental delay, spasticity, intellectual disability, autism, autonomic and peripheral neuropathy, optic nerve atrophy and cerebral and cerebellar atrophy.

KIF1A Associated Neurological Disorder (KAND)Clinical Features

KAND is a neurodegenerative disorder that appears in infancy or early childhood, and causes a wide range of symptoms with varying severity. The majority of KAND patients experience some form or hypotonia or hypertonia, and nearly half are affected by seizures. Nearly all KAND patients have developmental delay or intellectual disability. Half of KAND patients have optic nerve atrophy, which can cause severe visual loss. These symptoms affect virtually every aspect of life: walking, talking, seeing, learning, playing—sometimes even eating or breathing. New symptoms can develop or worsen over time with this progressive disorder, intensifying the burden of KAND on patients and families. Still, children affected by KAND are known for their “relentless” spirit. Our aim is to work toward treatment as relentlessly as they do in their daily lives.

Get to Know KIF1A.ORG

KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure. Founded in 2017 by parents Luke Rosen and Sally Jackson, KIF1A.ORG now represents 300 KAND families from over 20 countries, and our community continues to grow as newly diagnosed families connect with our community every week. Our relentless community includes dedicated researchers and clinicians from around the world who have joined our mission to find treatment for this generation of KAND patients. In addition to providing support and education to families affected by KAND, KIF1A.ORG supports researchers and innovators who engage in collaborative and translational work to rapidly discover treatments for KAND.

I am especially proud of ...

Before KIF1A.ORG was founded in 2017, there was no pre-clinical research program on KIF1A Associated Neurological Disorder, and certainly no therapeutic development programs. In just three years, the KIF1A.ORG community has established open access tools for development, built a global KIF1A Research Network, and welcomed two biotechnology companies to our mission with KIF1A therapeutic development programs announced in 2020. We’re proud of our relentless community of patients, families, scientists, clinicians, innovators and supporters who make our rapid progress toward improving lives and finding treatment possible.

Excited to REN because...

KIF1A.ORG looks forward to continuing our collaboration with REN. Three years into our natural history study, we’ve learned that seizures affect nearly half of KAND patients. However, with the degenerative and progressive nature of KAND, all patients are at risk of developing seizures. Like many in the rare epilepsy community, KAND families struggle with lack of standards of care and limited to no effective treatment options. We’re here to work side-by-side with other rare epilepsy communities to drive life-changing and life-saving improvements in how we care for and treat epilepsy for us all.

My journey and motivation...

I joined KIF1A.ORG shortly after my son Parker was diagnosed with KIF1A Associated Neurological Disorder in 2017. Like so many parents in the KIF1A and rare community, I’m here because we were given no standards of care and no treatment options. “No” is not an option, especially for patients and families struggling with life-changing and life-threatening conditions like epilepsy. But I know by working together, and with science on our side, we can improve care and bring treatment to patients.

By Kathryn Atchley, President, KIF1A.ORG


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